Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

17 matching diseasesClear search ×

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type

ORPHA:1010

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

ORPHA:307773

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308031

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

ORPHA:3212

Autosomal dominant severe congenital neutropenia

ORPHA:486

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

ORPHA:1366

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

ORPHA:307148

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

ORPHA:307846

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

ORPHA:307995

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502